Mutations of the Down–regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

@article{Hglund1996MutationsOT,
  title={Mutations of the Down–regulated in adenoma (DRA) gene cause congenital chloride diarrhoea},
  author={P. H{\"o}glund and S. Haila and J. Socha and L. Tomaszewski and U. Saarialho-Kere and M. Karjalainen‐Lindsberg and K. Airola and C. Holmberg and A. Chapelle and J. Kere},
  journal={Nature Genetics},
  year={1996},
  volume={14},
  pages={316-319}
}
A major transport function of the human intestine involves the absorption of chloride in exchange for bicarbonate1. We have studied a recessively inherited defect of this exchange, congenital chloride diarrhoea (CLD; MIM 214700)2. The clinical presentation of CLD is a lifetime, potentially fatal diarrhoea with a high chloride content. The CLD locus was previously mapped to 7q31 adjacent to the cystic fibrosis gene (CFTR)3. By refined genetic and physical mapping4,5, a cloned gene having anion… Expand
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea.
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Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea.
The molecular and genetic base of congenital transport defects
Update on SLC26A3 mutations in congenital chloride diarrhea
Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics
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